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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MTMR9
myotubularin related protein 9
Chromosome 8 · 8p23.1
NCBI Gene: 66036Ensembl: ENSG00000104643.11HGNC: HGNC:14596UniProt: Q96QG7
56PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphatase activator activityprotein phosphatase bindingnegative regulation of autophagy
✦AI Summary

MTMR9 is an adapter protein for catalytically active myotubularin-related phosphatases that regulates phosphoinositide metabolism and cellular trafficking. As an enzymatically inactive member of the myotubularin family, MTMR9 functions by forming heteromeric complexes with active phosphatases: it increases MTMR6 phosphatase activity up to 6-fold toward phosphatidylinositol 3,5-bisphosphate 1, enhances MTMR8 catalytic activity toward phosphatidylinositol 3-phosphate 2, and positively regulates MTMR7 activity 3. MTMR9 stabilizes both itself and its binding partners through complex formation, preventing their degradation 12. Subcellularly, MTMR9 localizes to the Golgi apparatus and intermediate compartment, recruiting active phosphatases to these locations and regulating ER-to-Golgi trafficking and secretion of cargo proteins like WNT3A 4. Functionally, MTMR9 negatively regulates autophagy through MTMR8 association 2 and protects against DNA damage-induced apoptosis via MTMR6 1. Clinically, mutations in MTMR9 are associated with nonsyndromic intellectual disability in Chinese populations 5, while the rs2293855 polymorphism associates with increased atherogenic risk in children 6. MTMR9 variants have been identified as candidate disease genes in diverse genetic disorders 78.

Sources cited
1
MTMR9 increases MTMR6 phosphatase activity up to 6-fold and stabilizes MTMR6 protein levels; MTMR9-MTMR6 complex protects against etoposide-induced apoptosis
PMID: 19038970
2
MTMR9 enhances MTMR8 catalytic activity toward phosphatidylinositol 3-phosphate, stabilizes MTMR8 protein levels, and negatively regulates autophagy through MTMR8 association
PMID: 22647598
3
MTMR9 binds to MTMR7 through its coiled-coil domain and increases MTMR7 phosphatase activity
PMID: 12890864
4
MTMR9 localizes to the Golgi apparatus and intermediate compartment, recruits MTMR6 and MTMR8 to these locations, regulates ER-to-Golgi trafficking, and modulates WNT3A secretion
PMID: 31704058
5
MTMR9 genetic variants (rs4559208, rs2164273, rs7815802) are significantly associated with nonsyndromic intellectual disability in Chinese populations
PMID: 32991201
6
MTMR9 rs2293855 polymorphism is associated with lower HDL cholesterol and higher atherogenic indices in Brazilian children
PMID: 37905391
7
MTMR9 is identified as a candidate disease gene in diagnostic exome sequencing studies
PMID: 28600779
8
MTMR9 homozygous deleterious variants are confirmed in patients with compatible Mendelian phenotypes
PMID: 30237576
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EMILIN1Protein interaction82%MTMR8Protein interaction76%MTMR7Protein interaction74%MTMR6Protein interaction73%FAM167AProtein interaction71%BLKProtein interaction71%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
MTMR9EMILIN1MTMR8MTMR7MTMR6FAM167ABLK
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96QG7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.45–0.77]
RankingsWhere MTMR9 stands among ~20K protein-coding genes
  • #8,109of 20,598
    Most Researched56
  • #6,250of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedMTMR9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med · 2019
0.90
3
Higher atherogenic risk in schoolchildren is associated with MTMR9 rs2293855 gene polymorphism and genetic score.
PMID: 37905391
Nutr Bull · 2023
0.80
4
MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis.
PMID: 19038970
J Biol Chem · 2009
0.70
5
Genetic Variants of the
PMID: 32991201
Genet Test Mol Biomarkers · 2020
0.60